Mutagenetix > Incidental Mutation

Incidental Mutation 'R1283:Myh13'

151092

Institutional Source

Beutler Lab

Gene Symbol

Myh13

Ensembl Gene

ENSMUSG00000060180

Gene Name

myosin, heavy polypeptide 13, skeletal muscle

Synonyms

EO Myosin, extraocular myosin, MyHC-eo

MMRRC Submission

039349-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R1283 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67370921 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1890 (E1890V)

Ref Sequence

ENSEMBL: ENSMUSP00000137731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081911] [ENSMUST00000108684] [ENSMUST00000180845]

AlphaFold

B1AR69

Predicted Effect

probably damaging
Transcript: ENSMUST00000081911
AA Change: E1890V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: E1890V

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	74	8e-13	PFAM
MYSc	80	783	N/A	SMART
IQ	784	806	4.6e-1	SMART
Pfam:Myosin_tail_1	847	1928	4.6e-159	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108684
AA Change: E1890V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: E1890V

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	2.8e-14	PFAM
MYSc	80	783	N/A	SMART
IQ	784	806	4.6e-1	SMART
low complexity region	847	858	N/A	INTRINSIC
low complexity region	925	940	N/A	INTRINSIC
Pfam:Myosin_tail_1	1072	1930	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000180845
AA Change: E1890V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: E1890V

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	2.8e-14	PFAM
MYSc	80	783	N/A	SMART
IQ	784	806	4.6e-1	SMART
low complexity region	847	858	N/A	INTRINSIC
low complexity region	925	940	N/A	INTRINSIC
Pfam:Myosin_tail_1	1072	1930	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181027

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.4%

Validation Efficiency

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,446,689 (GRCm38)	I2269N	probably damaging	Het
Ap4b1	T	A	3: 103,818,861 (GRCm38)	V251E	probably damaging	Het
Btn2a2	A	G	13: 23,478,832 (GRCm38)	V316A	probably damaging	Het
Fbxw15	G	A	9: 109,558,246 (GRCm38)	S227F	probably damaging	Het
Fdxacb1	A	G	9: 50,768,694 (GRCm38)	E60G	possibly damaging	Het
Gins3	A	G	8: 95,637,946 (GRCm38)	D108G	probably damaging	Het
Gsdmc2	T	C	15: 63,825,057 (GRCm38)	I422V	probably damaging	Het
Impg2	TACCACCACCACCACCACCACCACCA	TACCACCACCACCACCACCACCA	16: 56,257,939 (GRCm38)		probably benign	Het
Lamb2	A	G	9: 108,481,808 (GRCm38)	N241S	possibly damaging	Het
Mfsd12	T	C	10: 81,361,435 (GRCm38)	V254A	probably benign	Het
Mgst3	A	G	1: 167,378,296 (GRCm38)	V38A	possibly damaging	Het
Olfr659	A	G	7: 104,670,943 (GRCm38)	I80M	possibly damaging	Het
Rab11fip3	G	T	17: 26,004,554 (GRCm38)	D800E	probably damaging	Het
Scn8a	T	C	15: 100,969,171 (GRCm38)	I286T	possibly damaging	Het
Slc25a44	T	C	3: 88,420,578 (GRCm38)	Y183C	probably damaging	Het
Tmem170b	T	C	13: 41,627,995 (GRCm38)	F39L	possibly damaging	Het
Trpt1	T	A	19: 6,998,328 (GRCm38)	L150*	probably null	Het

Other mutations in Myh13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Myh13	APN	11	67,342,488 (GRCm38)	missense	probably damaging	1.00
IGL00808:Myh13	APN	11	67,335,004 (GRCm38)	critical splice donor site	probably null
IGL00822:Myh13	APN	11	67,361,328 (GRCm38)	missense	probably damaging	0.98
IGL00823:Myh13	APN	11	67,355,947 (GRCm38)	missense	probably benign	0.00
IGL00945:Myh13	APN	11	67,348,006 (GRCm38)	missense	probably null	1.00
IGL01414:Myh13	APN	11	67,342,472 (GRCm38)	missense	probably benign	0.02
IGL01482:Myh13	APN	11	67,352,068 (GRCm38)	missense	probably benign
IGL01523:Myh13	APN	11	67,347,943 (GRCm38)	missense	possibly damaging	0.73
IGL01723:Myh13	APN	11	67,369,219 (GRCm38)	unclassified	probably benign
IGL01997:Myh13	APN	11	67,367,166 (GRCm38)	missense	probably benign	0.14
IGL02369:Myh13	APN	11	67,360,274 (GRCm38)	unclassified	probably benign
IGL02478:Myh13	APN	11	67,369,378 (GRCm38)	missense	probably benign
IGL02663:Myh13	APN	11	67,354,927 (GRCm38)	nonsense	probably null
IGL02851:Myh13	APN	11	67,348,916 (GRCm38)	missense	possibly damaging	0.92
IGL02863:Myh13	APN	11	67,332,541 (GRCm38)	missense	probably damaging	1.00
IGL02929:Myh13	APN	11	67,367,165 (GRCm38)	missense	probably damaging	1.00
IGL02979:Myh13	APN	11	67,334,962 (GRCm38)	missense	possibly damaging	0.72
IGL03065:Myh13	APN	11	67,344,853 (GRCm38)	missense	probably damaging	0.99
IGL03214:Myh13	APN	11	67,353,585 (GRCm38)	missense	possibly damaging	0.79
IGL03223:Myh13	APN	11	67,350,242 (GRCm38)	missense	probably benign	0.39
IGL03231:Myh13	APN	11	67,351,991 (GRCm38)	missense	possibly damaging	0.94
IGL03407:Myh13	APN	11	67,352,152 (GRCm38)	missense	probably damaging	1.00
3-1:Myh13	UTSW	11	67,351,951 (GRCm38)	splice site	probably benign
P0042:Myh13	UTSW	11	67,334,991 (GRCm38)	missense	probably benign	0.00
R0047:Myh13	UTSW	11	67,367,237 (GRCm38)	missense	probably benign	0.00
R0047:Myh13	UTSW	11	67,367,237 (GRCm38)	missense	probably benign	0.00
R0379:Myh13	UTSW	11	67,369,295 (GRCm38)	unclassified	probably benign
R0496:Myh13	UTSW	11	67,348,815 (GRCm38)	missense	probably damaging	1.00
R0584:Myh13	UTSW	11	67,360,374 (GRCm38)	nonsense	probably null
R0595:Myh13	UTSW	11	67,344,846 (GRCm38)	missense	probably benign	0.03
R0621:Myh13	UTSW	11	67,341,232 (GRCm38)	missense	probably damaging	0.98
R0834:Myh13	UTSW	11	67,349,610 (GRCm38)	missense	possibly damaging	0.88
R0893:Myh13	UTSW	11	67,334,601 (GRCm38)	missense	probably damaging	1.00
R0964:Myh13	UTSW	11	67,345,002 (GRCm38)	missense	probably benign	0.02
R0973:Myh13	UTSW	11	67,332,520 (GRCm38)	missense	probably damaging	1.00
R0973:Myh13	UTSW	11	67,332,520 (GRCm38)	missense	probably damaging	1.00
R0974:Myh13	UTSW	11	67,332,520 (GRCm38)	missense	probably damaging	1.00
R1028:Myh13	UTSW	11	67,356,181 (GRCm38)	missense	possibly damaging	0.71
R1112:Myh13	UTSW	11	67,354,750 (GRCm38)	missense	probably damaging	1.00
R1288:Myh13	UTSW	11	67,353,718 (GRCm38)	missense	probably benign	0.00
R1386:Myh13	UTSW	11	67,370,950 (GRCm38)	missense	possibly damaging	0.79
R1457:Myh13	UTSW	11	67,331,046 (GRCm38)	missense	probably damaging	0.97
R1503:Myh13	UTSW	11	67,353,674 (GRCm38)	missense	probably benign	0.43
R1574:Myh13	UTSW	11	67,362,581 (GRCm38)	unclassified	probably benign
R1673:Myh13	UTSW	11	67,352,119 (GRCm38)	missense	possibly damaging	0.79
R1693:Myh13	UTSW	11	67,341,484 (GRCm38)	missense	possibly damaging	0.95
R1763:Myh13	UTSW	11	67,334,576 (GRCm38)	missense	probably benign
R2029:Myh13	UTSW	11	67,361,289 (GRCm38)	missense	probably benign	0.03
R2030:Myh13	UTSW	11	67,350,238 (GRCm38)	missense	probably benign
R2247:Myh13	UTSW	11	67,334,558 (GRCm38)	missense	probably damaging	0.96
R2393:Myh13	UTSW	11	67,340,358 (GRCm38)	missense	possibly damaging	0.93
R2395:Myh13	UTSW	11	67,364,922 (GRCm38)	missense	probably benign	0.12
R2884:Myh13	UTSW	11	67,337,643 (GRCm38)	missense	probably benign	0.27
R3696:Myh13	UTSW	11	67,345,044 (GRCm38)	missense	possibly damaging	0.55
R3786:Myh13	UTSW	11	67,327,188 (GRCm38)	missense	probably benign	0.01
R3875:Myh13	UTSW	11	67,358,194 (GRCm38)	missense	probably benign	0.26
R3918:Myh13	UTSW	11	67,329,238 (GRCm38)	missense	probably benign	0.00
R4061:Myh13	UTSW	11	67,330,889 (GRCm38)	missense	possibly damaging	0.71
R4160:Myh13	UTSW	11	67,364,810 (GRCm38)	intron	probably benign
R4183:Myh13	UTSW	11	67,349,610 (GRCm38)	missense	possibly damaging	0.88
R4392:Myh13	UTSW	11	67,344,881 (GRCm38)	splice site	probably null
R4639:Myh13	UTSW	11	67,341,551 (GRCm38)	missense	possibly damaging	0.91
R4670:Myh13	UTSW	11	67,364,738 (GRCm38)	nonsense	probably null
R4783:Myh13	UTSW	11	67,341,270 (GRCm38)	missense	probably damaging	1.00
R4877:Myh13	UTSW	11	67,337,651 (GRCm38)	missense	probably damaging	0.99
R5250:Myh13	UTSW	11	67,327,259 (GRCm38)	nonsense	probably null
R5278:Myh13	UTSW	11	67,334,564 (GRCm38)	missense	probably benign	0.00
R5371:Myh13	UTSW	11	67,344,790 (GRCm38)	splice site	probably null
R5479:Myh13	UTSW	11	67,348,822 (GRCm38)	missense	probably damaging	0.97
R5510:Myh13	UTSW	11	67,337,723 (GRCm38)	missense	probably benign	0.05
R5690:Myh13	UTSW	11	67,329,275 (GRCm38)	missense	probably damaging	1.00
R5797:Myh13	UTSW	11	67,335,002 (GRCm38)	missense	possibly damaging	0.66
R5823:Myh13	UTSW	11	67,360,468 (GRCm38)	missense	probably damaging	1.00
R5877:Myh13	UTSW	11	67,353,658 (GRCm38)	missense	possibly damaging	0.78
R6041:Myh13	UTSW	11	67,364,730 (GRCm38)	missense	probably damaging	1.00
R6175:Myh13	UTSW	11	67,354,762 (GRCm38)	missense	probably benign	0.00
R6244:Myh13	UTSW	11	67,362,501 (GRCm38)	missense	probably benign	0.00
R6454:Myh13	UTSW	11	67,350,365 (GRCm38)	missense	probably benign	0.03
R6617:Myh13	UTSW	11	67,361,400 (GRCm38)	missense	probably benign	0.00
R6707:Myh13	UTSW	11	67,350,260 (GRCm38)	missense	probably damaging	1.00
R6747:Myh13	UTSW	11	67,350,419 (GRCm38)	missense	probably damaging	0.99
R6823:Myh13	UTSW	11	67,356,158 (GRCm38)	missense	probably benign
R6911:Myh13	UTSW	11	67,354,927 (GRCm38)	nonsense	probably null
R6997:Myh13	UTSW	11	67,327,154 (GRCm38)	nonsense	probably null
R7033:Myh13	UTSW	11	67,369,316 (GRCm38)	missense	possibly damaging	0.92
R7145:Myh13	UTSW	11	67,354,740 (GRCm38)	missense	probably benign	0.08
R7232:Myh13	UTSW	11	67,348,846 (GRCm38)	missense	probably damaging	1.00
R7428:Myh13	UTSW	11	67,332,564 (GRCm38)	missense	probably damaging	1.00
R7448:Myh13	UTSW	11	67,364,460 (GRCm38)	critical splice acceptor site	probably null
R7474:Myh13	UTSW	11	67,367,711 (GRCm38)	missense
R7474:Myh13	UTSW	11	67,327,164 (GRCm38)	missense	possibly damaging	0.93
R7766:Myh13	UTSW	11	67,358,329 (GRCm38)	missense	probably benign	0.37
R7809:Myh13	UTSW	11	67,350,341 (GRCm38)	missense	probably benign	0.14
R7813:Myh13	UTSW	11	67,327,230 (GRCm38)	missense	probably benign	0.27
R7953:Myh13	UTSW	11	67,340,380 (GRCm38)	missense	probably damaging	1.00
R8085:Myh13	UTSW	11	67,334,787 (GRCm38)	missense	probably benign	0.00
R8397:Myh13	UTSW	11	67,350,287 (GRCm38)	missense	possibly damaging	0.62
R8434:Myh13	UTSW	11	67,363,185 (GRCm38)	critical splice acceptor site	probably null
R8490:Myh13	UTSW	11	67,364,525 (GRCm38)	missense	probably damaging	0.98
R8676:Myh13	UTSW	11	67,342,485 (GRCm38)	missense	probably damaging	1.00
R8681:Myh13	UTSW	11	67,352,134 (GRCm38)	missense	possibly damaging	0.49
R8777:Myh13	UTSW	11	67,361,335 (GRCm38)	missense	possibly damaging	0.92
R8777-TAIL:Myh13	UTSW	11	67,361,335 (GRCm38)	missense	possibly damaging	0.92
R8965:Myh13	UTSW	11	67,364,606 (GRCm38)	missense	probably benign	0.00
R9088:Myh13	UTSW	11	67,352,059 (GRCm38)	missense	probably damaging	1.00
R9151:Myh13	UTSW	11	67,361,323 (GRCm38)	missense	probably damaging	1.00
R9154:Myh13	UTSW	11	67,362,492 (GRCm38)	missense	probably benign
R9182:Myh13	UTSW	11	67,337,753 (GRCm38)	missense	probably damaging	1.00
R9332:Myh13	UTSW	11	67,363,283 (GRCm38)	missense	possibly damaging	0.57
R9393:Myh13	UTSW	11	67,352,068 (GRCm38)	missense	probably benign
R9446:Myh13	UTSW	11	67,364,499 (GRCm38)	missense	probably benign	0.01
R9474:Myh13	UTSW	11	67,364,886 (GRCm38)	missense
R9690:Myh13	UTSW	11	67,358,368 (GRCm38)	missense	probably damaging	1.00
R9761:Myh13	UTSW	11	67,360,468 (GRCm38)	missense	probably damaging	1.00
R9778:Myh13	UTSW	11	67,358,190 (GRCm38)	missense	probably damaging	0.98
Z1176:Myh13	UTSW	11	67,329,295 (GRCm38)	missense	possibly damaging	0.93
Z1177:Myh13	UTSW	11	67,364,591 (GRCm38)	missense	possibly damaging	0.93
Z1177:Myh13	UTSW	11	67,350,452 (GRCm38)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- CAGGGGACCATGTGATGATCTTTGG -3'
(R):5'- GGTATGACGAACCTGTTGGGAAGAC -3'

Sequencing Primer
(F):5'- CCATGTGATGATCTTTGGAAGAAG -3'
(R):5'- CCTGTTGGGAAGACACAGTTC -3'

Posted On

2014-01-29